ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280625
Gene: MEFV
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000083782
ClinVar Variation:
97530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Pro180Arg
CA280623
NM_000243.3:c.539C>G